Publicacións nas que colabora con Carlos Santos Ocaña (9)

2024

  1. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

  2. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

  3. Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease

    Journal of Cachexia, Sarcopenia and Muscle

2021

  1. Secondary CoQ10 deficiency, bioenergetics unbalance in disease and aging

    BioFactors, Vol. 47, Núm. 4, pp. 551-569

2019

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2018

  1. The mitochondrial phosphatase PPTC7 orchestrates mitochondrial metabolism regulating coenzyme Q10 biosynthesis

    Biochimica et Biophysica Acta - Bioenergetics, Vol. 1859, Núm. 11, pp. 1235-1248

2017

  1. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703

2015

  1. Mitochondrial responsibility in ageing process: innocent, suspect or guilty

    Biogerontology, Vol. 16, Núm. 5, pp. 599-620

2004

  1. Demethoxy-Q, an intermediate of coenzyme Q biosynthesis, fails to support respiration in Saccharomyces cerevisiae and lacks antioxidant activity

    Journal of Biological Chemistry, Vol. 279, Núm. 25, pp. 25995-26004